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Genome-wide pathogenesis interpretation using a heat diffusion-based systems genetics method and implications for gene function annotation.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-09-01 , DOI: 10.1002/mgg3.1456
Yuan Quan 1, 2 , Qing-Ye Zhang 2 , Bo-Min Lv 2 , Rui-Feng Xu 1 , Hong-Yu Zhang 2
Affiliation  

Genetics is best dedicated to interpreting pathogenesis and revealing gene functions. The past decade has witnessed unprecedented progress in genetics, particularly in genome‐wide identification of disorder variants through Genome‐Wide Association Studies (GWAS) and Phenome‐Wide Association Studies (PheWAS). However, it is still a great challenge to use GWAS/PheWAS‐derived data to elucidate pathogenesis.

中文翻译:

使用基于热扩散的系统遗传学方法进行全基因组致病解释,并对基因功能进行注释。

遗传学最擅长于解释发病机理和揭示基因功能。在过去的十年中,遗传学取得了空前的进步,尤其是在通过基因组广泛关联研究(GWAS)和现象广泛关联研究(PheWAS)进行的全基因组突变变异鉴定中。但是,使用GWAS / PheWAS衍生的数据阐明发病机理仍然是一个巨大的挑战。
更新日期:2020-10-12
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